Variant #0000357046 (NC_000002.11:g.48018321_48018322del, MSH6(NM_000179.2):c.457+59_457+60del)

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.48018321_48018322del
DNA change (hg38) g.47791182_47791183del
Published as -
ISCN -
DB-ID MSH6_000766 See all 3 reported entries
Variant remarks Insight class: 3
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner InSiGHT - John-Paul Plazzer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 ?/? 2i c.457+59_457+60del r.(=) p.(=)